Hülya Kayserili

20.4k total citations · 1 hit paper
152 papers, 4.4k citations indexed

About

Hülya Kayserili is a scholar working on Molecular Biology, Genetics and Genetics. According to data from OpenAlex, Hülya Kayserili has authored 152 papers receiving a total of 4.4k indexed citations (citations by other indexed papers that have themselves been cited), including 84 papers in Molecular Biology, 74 papers in Genetics and 20 papers in Genetics. Recurrent topics in Hülya Kayserili's work include Connective tissue disorders research (14 papers), Hedgehog Signaling Pathway Studies (12 papers) and Genomic variations and chromosomal abnormalities (11 papers). Hülya Kayserili is often cited by papers focused on Connective tissue disorders research (14 papers), Hedgehog Signaling Pathway Studies (12 papers) and Genomic variations and chromosomal abnormalities (11 papers). Hülya Kayserili collaborates with scholars based in Türkiye, United States and Germany. Hülya Kayserili's co-authors include Zehra Oya Uyguner, Han G. Brunner, Jacopo Celli, Hans van Bokhoven, Ellen van Beusekom, Umut Altunoğlu, Bernd Wollnik, Luciano Merlini, William B. Dobyns and Memnune Yüksel‐Apak and has published in prestigious journals such as Neuron, Nature Genetics and The Journal of Experimental Medicine.

In The Last Decade

Hülya Kayserili

142 papers receiving 4.3k citations

Hit Papers

Mutations in the O-Mannosyltransferase Gene POMT1 Give Ri... 2002 2026 2010 2018 2002 100 200 300 400 500
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
    2002 519 citations Hülya Kayserili et al. The American Journal of Human Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Hülya Kayserili Türkiye 35 2.8k 1.7k 473 461 331 152 4.4k
Karen W. Gripp United States 40 3.4k 1.2× 1.8k 1.0× 407 0.9× 239 0.5× 426 1.3× 140 5.0k
Hirofumi Ohashi Japan 36 3.1k 1.1× 2.5k 1.5× 500 1.1× 356 0.8× 378 1.1× 165 4.8k
Mustafa Tekin United States 42 3.0k 1.1× 1.5k 0.8× 274 0.6× 259 0.6× 252 0.8× 219 5.5k
Joël Zlotogora Israel 35 1.9k 0.7× 2.0k 1.2× 690 1.5× 374 0.8× 320 1.0× 170 5.0k
Luisa Bonafé Switzerland 36 1.8k 0.7× 1.4k 0.8× 275 0.6× 378 0.8× 502 1.5× 97 3.5k
John Tolmie United Kingdom 32 2.1k 0.8× 1.7k 1.0× 402 0.8× 463 1.0× 170 0.5× 108 3.5k
Kenjiro Kosaki Japan 35 2.7k 1.0× 1.8k 1.1× 591 1.2× 251 0.5× 388 1.2× 363 5.2k
André Mégarbané Lebanon 43 4.1k 1.5× 2.1k 1.2× 361 0.8× 723 1.6× 367 1.1× 276 7.0k
Elias I. Traboulsi United States 45 3.8k 1.4× 2.1k 1.2× 251 0.5× 565 1.2× 309 0.9× 289 7.5k
Gudrun Nürnberg Germany 44 2.9k 1.1× 1.6k 0.9× 253 0.5× 895 1.9× 220 0.7× 93 5.1k

Countries citing papers authored by Hülya Kayserili

Since Specialization
Citations

This map shows the geographic impact of Hülya Kayserili's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Hülya Kayserili with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Hülya Kayserili more than expected).

Fields of papers citing papers by Hülya Kayserili

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Hülya Kayserili. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Hülya Kayserili. The network helps show where Hülya Kayserili may publish in the future.

Co-authorship network of co-authors of Hülya Kayserili

This figure shows the co-authorship network connecting the top 25 collaborators of Hülya Kayserili. A scholar is included among the top collaborators of Hülya Kayserili based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Hülya Kayserili. Hülya Kayserili is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Wert, Guido de, Carla van El, Angus Clarke, et al.. (2025). Cascade counselling and testing. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics. 34(2). 171–184.
2.
Altunoğlu, Umut, Güven Toksoy, Şahin Avcı, et al.. (2024). Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures. Clinical Genetics. 105(6). 596–610. 2 indexed citations
3.
Uyguner, Zehra Oya, Birsen Karaman, Can Baykal, et al.. (2024). Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye. Molecular Syndromology. 16(4). 327–334.
4.
Theil, Arjan F., Alex Pines, José María Heredia‐Genestar, et al.. (2023). Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. EMBO Molecular Medicine. 15(11). e17973–e17973. 8 indexed citations
5.
Loh, Abigail, Kiat Yi Tan, Hane Lee, et al.. (2023). RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis. EMBO Molecular Medicine. 15(5). e17078–e17078. 5 indexed citations
6.
Güleç, Elif Yılmaz, Alper Gezdirici, Şahin Avcı, et al.. (2022). Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. Clinical Genetics. 102(3). 201–217.
7.
Altunoğlu, Umut, Aytül Çorbacıoğlu Esmer, Şahin Avcı, et al.. (2022). Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. American Journal of Medical Genetics Part A. 191(2). 498–509. 3 indexed citations
8.
Altunoğlu, Umut, et al.. (2022). A New Family with a Novel <b><i>OTUD6B</i></b> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot. Molecular Syndromology. 13(3). 206–211. 1 indexed citations
9.
Altunoğlu, Umut, Zehra Yavaş Abalı, Şahin Avcı, et al.. (2022). Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome. American Journal of Medical Genetics Part A. 188(7). 2061–2070. 2 indexed citations
10.
Altunoğlu, Umut, Anju Shukla, Nathalie Escande‐Beillard, et al.. (2021). Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis. Clinical Genetics. 101(2). 221–232. 5 indexed citations
11.
Moheb, Lia Abbasi, et al.. (2021). Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings. American Journal of Medical Genetics Part A. 188(4). 1226–1232. 2 indexed citations
12.
Kunz, Felix, Hülya Kayserili, Alina T. Midro, et al.. (2020). Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. American Journal of Medical Genetics Part A. 182(7). 1681–1689. 7 indexed citations
13.
Avcı, Şahin, et al.. (2020). Clinical exome sequencing in neuromuscular diseases: an experience from Turkey. Neurological Sciences. 41(8). 2157–2164. 9 indexed citations
14.
Bonnard, Carine, Naveenan Navaratnam, Thong Teck Tan, et al.. (2020). A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. The Journal of Experimental Medicine. 217(12). 35 indexed citations
15.
Carrieri, Daniele, Heidi Howard, Caroline Benjamin, et al.. (2018). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics. 27(2). 169–182. 60 indexed citations
16.
Avcı, Şahin, Güven Toksoy, Umut Altunoğlu, et al.. (2018). RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI. Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi. 81(4). 127–138. 1 indexed citations
17.
Bögershausen, Nina, Umut Altunoğlu, Filippo Beleggia, et al.. (2016). An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. American Journal of Medical Genetics Part A. 170(12). 3282–3288. 13 indexed citations
18.
Victoria, Teresa, Hülya Kayserili, Elaine H. Zackai, et al.. (2016). Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva. Pediatric Radiology. 46(11). 1568–1572. 5 indexed citations
19.
Dixon‐Salazar, Tracy, Jennifer L. Silhavy, Sarah Marsh, et al.. (2004). Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria. The American Journal of Human Genetics. 75(6). 979–987. 208 indexed citations
20.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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